角化性皮肤病

20060252疣状肢端角化症的临床及病理特点研究/王培光(安徽医大一附院皮肤科),林国书,高敏…∥中国麻风皮肤病杂志.-2005,21(11).-872~874分析本文及近40年来文献报道的17例肢端角化症先证者的临床及病理资料。发现该症大部分患者有家族史,常于20岁前发病。皮损主要分布于四肢伸侧,基本皮疹为扁平疣样的褐色扁平丘疹。皮损病理显示表皮明显角化过度、乳头瘤样增生及塔尖样表皮局限性隆起等特征性变化,是诊断疣状肢端角化症的主要依据。图2表1参16(赵恩兵)20060253棘状角皮症/刘跃华(中国医科院、协和医大北京协和医院皮肤科),李方凯…∥临床…     

疣状肢端角化症1例

疣状肢端角化症是一种少见的常染色体显性遗传病,也可散发。典型的临床表现为类似扁平疣的皮肤色或暗红褐色扁平丘疹,好发于手足背,一般无自觉症状。组织病理表现为表皮角化过度,呈乳头瘤样增生,部分表皮呈塔尖样局限性隆起,增生的表皮基底平齐。现遇一例散发病例,报告如下。     

疣状肢端角化症1例

疣状肢端角化症是一种少见的常染色体显性遗传病,也可散发。典型的临床表现为类似扁平疣的皮肤色或暗红褐色扁平丘疹,好发于手足背,一般无自觉症状。组织病理表现为表皮角化过度,呈乳头瘤样增生,部分表皮呈塔尖样局限性隆起,增生的表皮基底平齐。现遇一例散发病例,报告如下。     

天疱疮皮损出现疣状角化样改变的临床意义

目的:探讨天疱疮病程中皮损出现疣状角化样改变的意义.方法:对3例落叶型天疱疮患者的临床表现、治疗和随诊过程进行回顾性总结.结果:3例天疱疮患者在病情好转过程中,原有皮疹处出现疣状角化样改变,组织病理显示皮肤乳头瘤样改变,表皮浅层可见不连续的棘层松解现象,直接免疫荧光显示棘细胞间IgG网状沉积,病情出现反复.结论:在天疱疮患者随诊过程中,皮损出现疣状角化样改变可以作为复发的危险标记.     

对称性肢端角化病62例临床分析

目的 分析对称性肢端角化病患者的临床表现、人口学资料、组织病理学特点。方法 收集2003年5月以来在我院门诊就诊的对称性肢端角化病患者62例,详细了解其人口学资料及家族史,并进行全身体格检查,部分患者行皮损组织病理检查。结果 62例患者中男55例,女7例,发病年龄4 ～ 53岁,平均年龄24.02岁;病程15 d至10年,平均为26.65个月;主要临床表现为对称性褐色角化性斑片,皮损接触水后变白,主要分布在指背、手背、手腕、掌侧缘、踝部、膝部、肘部,冬季自然缓解;真菌检查阴性;组织病理学表现为表皮角化过度,棘层增厚,轻度乳头瘤样增生,真皮少量淋巴细胞。结论 对称性肢端角化病以对称性肢端角化为主要临床表现,伴有明显季节性变化。     

疣状斑块型汗管角化症1例报告

疣状斑块型汗管角化症１例报告陈昭渭，黄卫东，蔡雷，叶珊（福建省福州市皮肤病防治院皮肤科门诊３５０００１）汗管角化症（Ｐｏｒｏｋｅｒａｔｏｓｉｓ）是一种罕见的慢性进行性角化性皮肤病。其特征为轻度萎缩的斑片，绕有隆起疣状边缘，多数有家族史。我院皮肤科门诊...     

表现为色素性对称性肢端角化性皮损的一组患者临床分析

目的 报道一组表现为色素性对称性肢端角化性皮损患者的临床表现、组织病理学及治疗结果。方法 系统地收集了自1998年5月至2007年9月来我科就诊的以色素性对称性肢端角化性皮损为表现的16例患者的临床资料，包括临床表现、皮损组织病理学改变、治疗、性别、年龄、职业、家族成员情况等。结果 男14例，女2例；年龄9 ~ 54岁；病程2个月至8年，平均（2.0 ± 1.5）年。主要临床表现为出现棕褐或棕黑色斑，均呈对称性斑丘疹，表面粗糙，有少许脱屑，伴轻度瘙痒。皮损部位：16例（100%）患者在双手掌指背、手腕，2例（12.5%）双肘及双膝，3例（18.8%）双踝部。组织病理学表现：表皮角化过度，棘层增厚，乳头瘤样增生；真皮少许淋巴细胞浸润。家庭成员无类似病史。给予口服维A酸类、烟酰胺、维生素B6等，外用维A酸软膏、糖皮质激素类软膏等，疗效欠佳，或病情反复。结论 这是一组主要以肢端出现对称性色素性角化斑或斑丘疹，组织病理学表现以表皮角化过度、棘层增厚、乳头瘤样增生为特征的皮肤病，病因不明。     

毛囊角化病合并疣状肢端角化症二例临床及基因检测分析

报道2例毛囊角化病合并疣状肢端角化症并复习相关文献。两例患者临床均表现为手足多发疣状丘疹,都有明确家族史。对两例患者行基因检测均发现了ATP2A2的异常突变。经过文献复习后发现毛囊角化病与疣状肢端角化症两者之间的关系不能明确,需要进一步遗传学研究。     

慢性苔藓样角化病5例临床病理分析

报告5例慢性苔藓样角化病。男4例,女1例,年龄13～50岁。3例皮损为带状或网状分布的紫红色丘疹,2例皮损呈疣状。皮损多无自觉症状,但有1例患者皮损伴有剧烈的瘙痒。组织病理改变主要为表皮角化过度伴局灶性角化不全,局部颗粒层增厚,棘层不规则肥厚,表现为棘层肥厚和萎缩相间,基底细胞液化变性。真皮浅层炎性细胞呈带状浸润,主要为淋巴细胞和组织细胞,并可见少量嗜酸性粒细胞和浆细胞。4例患者的毛囊和真皮血管周围也有炎性细胞浸润。本病需与扁平苔藓和扁平苔藓样角化病等鉴别。     

播散性浅表光线性汗孔角化症一例及其家系报告

汗孔角化症（PK）属常染色体显性遗传，是一组少见的慢性进行性角化性皮肤病，病理上以表皮角化不全柱为特征；临床上以边缘堤状疣状隆起、中央轻度萎缩为特征。现报告1例播散性浅表光线型汗孔角化症患者及其家系调查。     

Association of verruciform acrokeratosis with congenital poikiloderma as a dermatologic entity

An 18-year-old young man, presents multiple areas of poikilodermia since 1 year of age, and papules like flat warts essentially on the back of his hands and feet, since 10 years of age. The examination of 16 of his closest relatives led us to discover 1 case of poikilodermia and acrokeratosis verruciformis, 1 case of poikilodermia and 3 cases of acrokeratosis veruciformis. Observations on the association of poikilodermia and acrokeratosis verruciformis have already been reported in the literature as well as comparable morphological fact, but without family lesions and without histological examinations. Thus, rare patients are presenting both congenital pikilodermia and acrokeratosis verruciformis. In the families of 3 of these patients, some members are similarly afficted, whereas others present independently either poikilodermia or acrokeratosis. In several reports in the literature and in our cases, the histological picture of verruciform papules was the same as Hopf's acrokeratosis verruciformis. These particularities led us to consider the association of Hof's and Thomson's diseases as an entity.     

Acitretin treatment in acrokeratosis verruciformis of Hopf

Acrokeratosis verruciformis of Hopf is a rare disorder and characterized by flesh-coloured, wart-like, flat papules on the dorsum of the hands and feet. The disease is an autosomal disorder, but sporadic cases also occur. We present a 38-year-old woman diagnosed with acrokeratosis verruciformis without family history and treated successfully with acitretin.     

儿童额部以色素减退性丘疹为表现的扁平疣共聚焦图像特征

目的分析发生于儿童额部的以色素减退性丘疹为表现的扁平疣共聚焦激光扫描显微镜(RCM)影像学特征。方法对研究组9例发生于儿童额部的色素减退性扁平疣及对照组6例色素加深性扁平疣行RCM检查,再对该处皮损行组织病理学检查,并将结果进行对比分析。结果研究组及对照组组织病理学检查显示:棘层轻度增厚,棘细胞上层及颗粒层可见数量不等的空泡化细胞。RCM扫描图像显示:研究组9例患儿棘层上部及颗粒层可见大的多角形细胞;其中3例在棘层中上部可见大的多角形细胞与同心圆结构重叠和/或过渡区域,棘层中部可见到典型同心圆结构。对照组6例中4例见典型的同心圆样改变,另外1例见大的多角形细胞但不伴典型同心圆结构。结论儿童前额以色素减退性丘疹为表现的扁平疣其RCM图像具有独特的表现,可作为其诊断及鉴别诊断的重要工具。     

Darier's disease in Singapore

BACKGROUND: Darier's disease is a rare, dominantly inherited genodermatosis. Although it has been well studied in caucasians, very little is known about the clinical spectrum of this disorder among Asians. OBJECTIVES: To determine the demographic and clinical profile of Asian patients with Darier's disease. METHODS: This is a retrospective study of all new cases of Darier's disease seen in our centre over a 20-year period (1982-2002). Results Twenty-four nonrelated cases of Darier's disease were studied. The incidence rate was 3.1 per million per decade. The gender distribution was 19 males and five females, and the ethnic origin was 21 Chinese, two Malays and one Nepalese. The peak age of onset was between 11 and 20 years. Sun exposure exacerbated the disease in 13 of the patients, and three had neuropsychiatric disorders. The disease affected predominantly seborrhoeic areas in 19 patients, flexural in three, acral in one and was segmental in one patient. Hand involvement was common and included palmar pits in nine patients, acrokeratosis verruciformis in four and nail changes in 12 patients. Haemorrhagic macules were not seen. Rare features included oral mucosal lesions (two patients) and guttate leucoderma (three patients). Pathogens involved in cutaneous infections included herpes simplex virus, Staphylococcus aureus, Streptococcus species and Morganella morgani. All patients treated with oral retinoids had improvement of clinical signs. In contrast, the response to topical retinoids was poor. CONCLUSIONS: Compared with western studies, our results show a similar incidence rate, age of onset, distribution of disease patterns and association with neuropsychiatric disorders. Features that differ include co-occurrence of guttate leucoderma, rarity of acrokeratosis, absence of haemorrhagic macules and poor response to topical retinoids.     

Acrokeratosis verruciformis (Hopf)—a clinical entity?

Contrary to the Unitarian concept of acrokeratosis verruciformis and Darier's disease, a comparative familial, clinical and histopathological analysis of six cases each of these two diseases has suggested that they are separate entities. Though clinically similar, acrokeratosis remained non-dyskeratotic throughout life, whereas the acral lesions of Darier's disease showed, on careful scrutiny and follow-up, various gradations of benign acantholytic dyskeratosis. Malignant transformation indicated that dyskeratosis in Hopf's disease would be very rare and of a different nature. The probability of a genetic linkage between the two genodermatoses is reviewed and discussed.     

The cutaneous pathology of extrafacial lesions in Cowden's disease

Twenty extrafacial lesions from 6 patients with Cowden's disease were studied. Most were hyperkeratotic papillomas that resembled verruca vulgaris, acrokeratosis verruciformis , or hyperkeratotic acanthomas. Small hyperkeratotic papillomas frequently showed abnormalities of the follicular infundibulum. Occasionally, follicular abnormalities were seen without concomitant epidermal hyperplasia. It is concluded that some of the extrafacial lesions may originate from the follicular infundibulum. No evidence of a virus infection was found using an antiserum to papilloma virus.     

Bullous dyskeratosis follicularis and acrokeratosis verruciformis. Report of a case.

Morbus Darier, Hailey's familiar benign chronic pemphigus, and acrokeratosis verruciformis were observed in one patient. The diagnosis was based on the clinical picture and microscopic studies. The simultaneous occurrence in one patient of these congenital diseases suggests that it is possible that all three disorders are variants of one and the same disease. Five close relatives of the patient had acrokeratosis verruciformis.     

Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease

Acrokeratosis verruciformis of Hopf is a localized disorder of keratinization affecting the distal extremities. Onset is early in life and the disease is inherited in an autosomal dominant fashion. Although histology of acrokeratosis verruciformis lesions shows no evidence of dyskeratosis, a possible relationship with Darier's disease has long been postulated on the basis of clinical similarity. ATP2A2 encoding the sarco(endo)plasmic reticulum Ca2+ ATPase2 pump has been identified as the defective gene in Darier's disease. In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2. This mutation predicts a nonconservative amino acid substitution in the ATP binding domain of the molecule. The mutation segregates with the disease phenotype in the family and was not found in 50 controls. Moreover, functional analysis of the P602L mutant showed that it has lost its ability to transport Ca2+. This result demonstrates loss of function of the sarco(endo)plasmic reticulum Ca2+ ATPase2 mutant in acrokeratosis verruciformis, thus providing evidence that acrokeratosis verruciformis and Darier's disease are allelic disorders.     

Extensive presentation of verruca plana in a healthy individual

A 27-year-old healthy man presented with non-itchy hyperpigmented skin lesions involving the trunk of duration 3 years. Examination revealed numerous coalescing, rough, slightly elevated brownish papules involving large areas of back, chest, and abdomen. There were no other cutaneous or systemic findings. Cutaneous biopsy was suggestive of verruca plana, which confirmed our clinical diagnosis. Here, we report this case of verruca plana due to its rare extensive involvement and unusual site in a non-immunocompromised individual.